SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, LIPC rs10468017, rs493258 and LPL rs12678919 genotypes and haplotype evaluation in patients with age-related macular degeneration.

OBJECTIVE: Age-related macular degeneration (AMD) is the leading cause of blindness in elderly individuals in the developed countries. The etiology of AMD is thought to be multifactorial, including environmental and genetic factors. Our purpose was to determine the genotype frequencies of six different SNPs in genes that encode proteins involved in AMD-related molecular changes (SIRT1 rs12778366, FGFR2 rs2981582, STAT3 rs744166, LIPC rs10468017, rs493258 and LPL rs12678919) for evaluation of haplotype risk in patients with AMD.

METHODS: The study cohort consisted of 652 AMD patients and 829 healthy controls. The genotyping was carried out using the RT-PCR.

RESULTS: TT genotype of the LIPC rs493258 polymorphism was associated with decreased odds of early AMD development under the codominant and recessive models (OR = 0.446; 95% CI: 0.258-0.772; p = 0.004 and OR = 0.455; 95% CI: 0.274-0.756; p = 0.002, respectively) after Bonferroni correction, (p > 0.05/6, since we analyzed 6 different SNPs). The haplotype containing the two minor alleles T-T in rs10468017-rs493258 were significantly (p = 0.034) associated with early AMD development decreasing. There were no associations found with atrophic AMD development.

CONCLUSION: The study showed that LIPC rs493258 gene and haplotype containing the two minor alleles T-T in rs10468017-rs493258 may decrease AMD development.